The False Assumption about PGD tested embryos

Hi.

It's been a while. I always feel badly when a lot of time goes by without checking in. The past month has been business as usual-- I had ideas for a second documentary that I have to sell Noah on because he's still dealing with the specifics about getting the first one out in a few months. Momo is starting preschool next week. I've had some family stuff-- one being saying goodbye to my Baboo, who was like an adopted grandmother to me. When my mom moved to this country from Japan, she didn't speak much English. She came here for art school which is where she met Baboo-- a much older very outspoken hippie who taught my mom how to drive and probably the F word. She was an incredible artist and dancer and because my grandparents lived in NY and Japan, she became like a grandma to me. She was at my birth and loved me just as deeply as she loved her own children and grandchildren. She's at home with hospice care and I went to see her this weekend because chances are she won't be here much longer. Anyway, I guess my point in sharing this is that simple reminder that life is so precious but also that love and familial relationships cross the genetic boundary in lots of different ways. 

I digress. 

I really only want to write when I feel like I have something worth talking about. One thing I have been noticing a lot lately, and by a lot I mean about a half dozen people I know who have recently done  FETs with PGD or PGS tested embryos and have been completely baffled that they haven't worked. And I have been too, because I think there is a false assumption when transferring a PGD tested that it's just going to work.

So a PGD tested embryo is when the doc takes a single cell out of the embryo to test chromosomes. The information you get is if it is a genetically "normal" embryo and gender if you want it. The result is a confidence in that embryo--why shouldn't there be....and possibly an attachment to a potential boy or girl.  Knowing gender sounds like a fun idea ahead of time but I have also seen how hard it is when the pregnancy doesn't work out. I believe the success rate for PGD tested embryos is somewhere between 55%-70% depending on who you ask, which is high, but it's not 100%. Nothing is, as we all well know.  And I'm no doctor here so your doc might tell you otherwise. The testing itself can also be very expensive, averaging around $5,000 last I checked. So is it worth it? I guess it really depends on the situation but this is a conversation I feel I've been having with different people in different situations and I guess if you can afford it without any issue and you have enough embryos that the risk of doing the biopsy feels manageable, it might be a no brainer, but anyone who really needs to weigh the pro/con list of this one might feel a bit stressed out. The added stress is knowing that the WTF feeling after a negative beta test can feel a little super sized. 

Is this something a lot of people have dealt with? Having to decide on PGD or PGS testing and then not having the expected outcome? 

I guess it's always most important to do what feels right to you and your partner and doctor, and then have realistic expectations. Whatever that means anymore. Good luck to anyone having a transfer soon. I'm gearing up for #2. My phone appointment with my doctor is mid September and then its go time. The excitement I feel about this possibility is only a fraction higher than the dread I feel about everything I have to do to try and get this thang to work. But it can be done. It will be done. And hopefully my decade of trying to make babies will eventually be behind me. 

 

Comments

[jaclyn]

I'm 40. I had two miscarriages in the past two years, one far along enough to test for chromosomal abnormalities and it was a trisomy 18. At 40, 50-70% of my eggs are genetically abnormal. I went through IVF, and had 16 eggs, 13 mature. Those 13 fertilized. By day 5, I had 4 blastocysts. 3 of the 4 blastocysts tested genetically abnormal. They implanted the one chromosomal normal blastocyst. What I've read of PGS is that it is much more beneficial for older women since so many of our eggs are chromosomal abnormal, but there's a small risk to the embryo so its scary since older women usually make very few eggs.

[Chelsea]

We arrived at the end of our fertility journey after 4 years at donor eggs...we chose to use a South African donor as I live in Australia and unless you have a willing family member or friend there is a very long waiting list for a donor...I won’t go into all the details but after 18 eggs being fertilised only 3 came back normal after pgs testing...they implanted 2 initially with no result and did our last transfer last dec which again didnt result in a positive...I was given a95%chance of this working as the doctor inserted the embryos,which has left me feeling slightly angry at giving me such false hopes...I believe it has made getting over it a lot harder...we are no longer trying to have children as we are spent emotionally and financially...I’m also 44 and feel too old...also I am sick to death of people/friends saying to try donor eggs (as they don’t know we have)...there seems to be this misconception that it’s a guarantee

[CJ]

Hi - I found your site by accident. I failed three transfers with 3 PGS normal hatching blasts this year alone. Depression has hit me extremely hard. I feel like a severe minority with this situation and deeply alone. I am ready to give up. I've been on IF island for over three years (am turning 37 soon so clinic is dumping my odds into a lower category by age on top of everything else)

I was wondering if you could share about your 'anonymous donor embryo'? How does one apply for that?

[Miranda]

Just chiming in to say that I hear and share your skepticism! I did PGS (CCS) and got pregnant with a euploid embryo - but discovered a missed miscarriage at our 13 week ultrasound to do an NT scan. Though I knew miscarriage was possible, I was still blindsided, and even more so when testing of the fetus after D&C showed that he had trisomy 18. My clinic explained that this was rare, but that the embryo was likely mosaic and healthy cells happened to be removed and tested during CCS. I also recommend checking out the NY Mag article. It helped me make a little peace with what happened, because at least my embryo got a chance to correct in utero, rather than being discarded right off the bat. Despite this experience, I did choose to test again in my next cycle and now have a healthy baby. It is so tough.

[Don't Count Your Eggs]

Thanks to everyone for commenting on this-- it's helpful and informative! And I just saw that NY Mag art but haven't sat down with it...very curious.

[Deb]

Did you see the article on aneuploid embryos in NYMag? Take a look. I thought of this post when reading it.

[Jen]

I'm so glad you brought up this topic. We did PGS (or CCS - Comprehensive Chromosomal Screening) so that I could avoid additional miscarriages (we were told there was a 6% chance of miscarriage). What I didn't realize was that miscarriage was defined as having seen a heartbeat on an ultrasound prior. Because we already had a son, and because we knew we had a male and female embryo that were almost the same quality, we chose the female (although she was slightly less quality). I had a low beta of 47, then it just decreased. I was floored. I couldn't understand why it didn't work if we paid $7,000. Not to mention I was devastated that we weren't going to get our girl. Our male embryo was better quality, and was a successful transfer. He's the sweetest, kindest little boy. I always advise people to transfer their best quality embryo, no matter what. And to this day, I question if CCS is legitimate and worth it. Best wishes to you!

[Deb]

Also, like Jojo, I've had miscarried material tested as totally normal. So I don't think the screening is very informative.

I also wanted to add good luck! I'm excited to hear about your experience, and hope Momo meets her sybbling soon!

[Deb]

I am absolutely uninformed (not a doctor or scientist), but I am skeptical of PGS, apart from the screening for specific genetic diseases (PGD) that are a known problem that could be inherited from one or more parents. From what I've heard, mosaicism makes the results suspect. Lots of embryos are mosaics of more than one gene line. So the test can indicate abnormality when the embryo will in fact shed the abnormal cells, or normalcy when the abnormals will take over. Although my logic is contradictory on this point, I'm also wary of taking even a single cell off of a small embryo for testing, for fear it's an important one. Does that make sense?

[JL]

How timely. My husband and I are about to start our 2nd IVF cycle and PGS/PGD testing is the next recommended option. We really, really struggled with making a decision. Mostly since it's still considered experimental, and there are no guarantees as you mention. It really seems like an add-on for people who can afford it. We can't really, but have decided that this will be our last cycle so we'll pursue the testing provided my doctor is able to retrieve more than 3 embryos (the number we retrieved last time). I am 38 (39 in Jan), have unexplained IF, have never been pregnant, and have never miscarried. After everything we've been through, it still feels like a total crapshoot.

[R]

I've never posted but just wanted to say that PGS is where chromosomes are screened and PGD is to check for specific genetic disorders when the parents know that they are carriers and/or have an affected child. While the "S" is for screening and not necessarily accurate or diagnostic (i.e., an embryo can seem "normal" or "abnormal" but who knows how'd it'd actually turn out if implanted), the "D" is for diagnosis and fairly accurate indicator of whether a future child would have the genetic disorder.

[Jojo]

I am mixed on this. I miscarried a genetically normal embryo which was a shock at the time. I thought the point of testing was you avoided a miscarriage. Then, when we moved to donor eggs, testing helped me at least get better odds of success per transfer. So really my opinion is, do it if you have the money and resources but know going in that it is not a guarantee. Hope this next step finally ends your IF journey!

[Pamela O]

Wishing you every possible luck on this next step! I know there's a lot of pressure on this wonderful embryo (and I was pretty devastated when I lost a twin early on in this donor embryo pregnancy, knowing it was the other child's only chance at a genetic sibling), but I'm also excited to see what new and unique scenario will lead us to our second child (provided this one makes it to the point of becoming an actual baby... after two losses it's really hard to count any chickens).

But I really hope your Plan A pans out this time :)

We did PGS during our first try at IVF, and both of our blastocysts were complex abnormal. I was glad I did it then, it saved us a lot of time and grief. We didn't screen the next four embryos (just transferred them 2 by 2), and one was a BFN, the other a miscarriage at 6 weeks... with what out to be chromosomally normal "products of conception." Go figure.

So you really never know. It seems with most donor embryos, the odds are pretty good anyway, but even the most beautiful embryo on the block from a 23-year-old egg can be totally incompatible with life. (Yep, I also miscarried one of those. Didn't screen before or after. Just kept on transferring.)

So many hard decisions. I just wish everyone the best.